NOS1

On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

Sep 20, 2018

Full Name

nitric oxide synthase 1

Location
Chromosome 12q24.22


Function

NOS1 codes for a protein that makes nitric oxide from L-arginine. Nitric oxide acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities (Alderton et al. 2001).

Database Links

GeneCards: GC12M117169

NCBI Gene: 4842

OMIM: 163731

UniProtKB/Swiss-Prot: P29475

Clinical Significance

Two changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this patient.

Gene NOS1
Inheritance Pattern Autosomal recessive
Position Chr12:117660575; Chr12:117672371
Transcript NM_000620; NM_001204218
DNA Change c.4022A>G; c.3336A>G
Protein Change p.K1341R; p.L1112L
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